Genetics researcher gives gift of life

Newborn baby on mum SCIENCE AND TECHNOLOGY

A UniSA PhD student is giving parents who have experienced stillbirth and neonatal death the chance to have healthy babies thanks to her innovative research using DNA sequencing.

Alicia ByrneBased at the Centre for Cancer Biology (CCB), Alicia Byrne works in collaboration with clinicians at the Women’s and Children’s Hospital and scientists at the CCB Genomics Facility to identify the genetic cause behind congenital abnormalities and fatalities in utero. She says her research involves looking at DNA sequences to uncover the ‘faulty’ gene so future embryos can be screened for it.

“I’m using a genomic approach, examining the entire DNA sequence of patients affected by severe, rare inherited disorders to determine the genetic change causing their disease,” Alicia says.

“My focus is on patients with disorders that are so severe they are fatal in utero or shortly after birth. For the majority of these families, current autopsy investigations are unable to identify the cause.

“The outcomes of my work are twofold. For the scientific community, identifying the genes implicated in these disorders can help to reveal the normal function of those genes and their role in embryonic development.

“The work also has immediate and life-changing outcomes for the families involved. By establishing the molecular cause underlying these disorders it allows hopeful parents-to-be to receive accurate recurrence risk counselling, as well as facilitating family planning and assisted reproductive options.”

The reward of helping patients

Alicia, who was recently awarded the Maurice de Rohan scholarship, says helping real patients and families is what drives her.

“I’m working with families who have experienced multiple stillbirths, and by examining their DNA sequences I have been able to find out why,” she says.

“This then allows couples to undergo a process called pre-implantation genetic diagnosis, which is like IVF, but embryos are screened before implantation and only those that don’t carry the disease causing gene mutation are selected.

“One of the most rewarding moments so far was to find out I had played a part in helping one couple have a healthy baby boy. That felt absolutely incredible.”

The scholarship will allow Alicia to travel to the United States this year to undertake research at the Center for Mendelian Genomics (CMG) at the Broad Institute of Havard University and Massachusetts Institute of Technology.

“Being able to spend an extended period of time working at the CMG, with access to their world-class facilities and the expertise of scientists and clinicians from the Broad and its affiliates around the world, is an unparalleled opportunity that will not only benefit my PhD, but also my professional and personal development,” she says.

“In the long-term, I hope my work will put me in the position to straddle both research and diagnostics. I want to be involved in creating a more fluid interface between the two worlds so that we can ultimately provide better outcomes for patients.”

The Maurice de Rohan International Scholarship gives UniSA PhD students the opportunity to gain an international perspective and improve their thesis through research, data collection or work with institutional or industry partners in the United Kingdom or the United States.